Species Human Entrez 83715 | Human Mouse Ensembl ENSG00000187017 | |
Aliases ESPN, DFNB36, LP2654, Espin External IDs MGI: 1861630 HomoloGene: 23164 GeneCards: ESPN | ||
Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene. Espin is a microfilament binding protein.
Contents
Function
Espin is a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells.
Clinical significance
Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.
References
Espin (protein) Wikipedia(Text) CC BY-SA